ATP Binding Cassette Subfamily B Member 7 (ABCB7) Antibody

Background

ABCB7 is a mitochondrial transporter essential for the biogenesis of iron-sulfur clusters, which are critical cofactors for enzymes involved in cellular respiration, DNA repair, and metabolic processes. ABCB7 facilitates the export of iron-sulfur cluster intermediates from mitochondria to the cytosol, a key step in ensuring proper assembly and function of cytosolic and nuclear iron-sulfur proteins. Highly expressed in metabolically active tissues, such as the liver, bone marrow, and red blood cells, ABCB7 plays a vital role in maintaining iron homeostasis and mitochondrial function. Mutations in the ABCB7 gene are linked to X-linked sideroblastic anemia with ataxia, characterized by defective hemoglobin synthesis, neurological impairments, and mitochondrial dysfunction. Additionally, ABCB7 has been implicated in oxidative stress responses, highlighting its broader role in cellular protection and energy regulation. Its functions in iron-sulfur cluster assembly and export underscore its critical importance in mitochondrial and cellular health.